Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[29942564T>A;29942581C>G;29942601C>T;29942761C>T;29942827C>A;29942923G>T;29942939C>G;29942940A>G;29942953T>A;29942965G>C;29942975G>C;29943279A>G;29943286T>G;29943287A>G;29943315G>T;29943337G>A;29943338G>C;29943342G>T;29943377C>A;29943413G>A;29943421T>C;29943430G>A;29943451A>T;29943479T>G;29944124C>G;29944132G>A;29944135A>G;29944144C>T;29944151C>G;29944153C>T;29944154A>G;29944168G>A;29944193G>A;29944331G>C;29944370C>T;29944503T>C;29944556C>T;29944591C>T;29945075T>C;29945079A>T;29945265C>T] , CM000668.2:g.[29942564T>A;29942581C>G;29942601C>T;29942761C>T;29942827C>A;29942923G>T;29942939C>G;29942940A>G;29942953T>A;29942965G>C;29942975G>C;29943279A>G;29943286T>G;29943287A>G;29943315G>T;29943337G>A;29943338G>C;29943342G>T;29943377C>A;29943413G>A;29943421T>C;29943430G>A;29943451A>T;29943479T>G;29944124C>G;29944132G>A;29944135A>G;29944144C>T;29944151C>G;29944153C>T;29944154A>G;29944168G>A;29944193G>A;29944331G>C;29944370C>T;29944503T>C;29944556C>T;29944591C>T;29945075T>C;29945079A>T;29945265C>T]	GRCh38
NC_000006.11:g.[29910341T>A;29910358C>G;29910378C>T;29910538C>T;29910604C>A;29910700G>T;29910716C>G;29910717A>G;29910730T>A;29910742G>C;29910752G>C;29911056A>G;29911063T>G;29911064A>G;29911092G>T;29911114G>A;29911115G>C;29911119G>T;29911154C>A;29911190G>A;29911198T>C;29911207G>A;29911228A>T;29911256T>G;29911901C>G;29911909G>A;29911912A>G;29911921C>T;29911928C>G;29911930C>T;29911931A>G;29911945G>A;29911970G>A;29912108G>C;29912147C>T;29912280T>C;29912333C>T;29912368C>T;29912852T>C;29912856A>T;29913042C>T] , CM000668.1:g.[29910341T>A;29910358C>G;29910378C>T;29910538C>T;29910604C>A;29910700G>T;29910716C>G;29910717A>G;29910730T>A;29910742G>C;29910752G>C;29911056A>G;29911063T>G;29911064A>G;29911092G>T;29911114G>A;29911115G>C;29911119G>T;29911154C>A;29911190G>A;29911198T>C;29911207G>A;29911228A>T;29911256T>G;29911901C>G;29911909G>A;29911912A>G;29911921C>T;29911928C>G;29911930C>T;29911931A>G;29911945G>A;29911970G>A;29912108G>C;29912147C>T;29912280T>C;29912333C>T;29912368C>T;29912852T>C;29912856A>T;29913042C>T]	GRCh37
NC_000006.10:g.[30018320T>A;30018337C>G;30018357C>T;30018517C>T;30018583C>A;30018679G>T;30018695C>G;30018696A>G;30018709T>A;30018721G>C;30018731G>C;30019035A>G;30019042T>G;30019043A>G;30019071G>T;30019093G>A;30019094G>C;30019098G>T;30019133C>A;30019169G>A;30019177T>C;30019186G>A;30019207A>T;30019235T>G;30019880C>G;30019888G>A;30019891A>G;30019900C>T;30019907C>G;30019909C>T;30019910A>G;30019924G>A;30019949G>A;30020087G>C;30020126C>T;30020259T>C;30020312C>T;30020347C>T;30020831T>C;30020835A>T;30021021C>T]	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;895+106T>C;895+159C>T;895+194C>T;912T>C;916A>T;960C>T]	ENSP00000492789.2:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000706892.1:n.[287T>A;304C>G;324C>T;354C>T;420C>A;516G>T;532C>G;533A>G;546T>A;558G>C;568G>C;631A>G;638T>G;639A>G;667G>T;689G>A;690G>C;694G>T;729C>A;765G>A;773T>C;782G>A;803A>T;831T>G;1476C>G;1484G>A;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1520G>A;1545G>A;1683G>C;1722C>T;1855T>C;1908C>T;1943C>T;2427T>C;2431A>T;2617C>T]
ENST00000706893.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;933T>C;986C>T;1021C>T;13T>C;17A>T;*61C>T]	ENSP00000516609.1:[p.Met4Lys;p.Leu10Val;p.Ala16=;p.Ser26=;p.A...
ENST00000706894.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000516610.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000706895.1:n.[287T>A;304C>G;324C>T;354C>T;420C>A;516G>T;532C>G;533A>G;546T>A;558G>C;568G>C;631A>G;638T>G;639A>G;667G>T;689G>A;690G>C;694G>T;729C>A;765G>A;773T>C;782G>A;803A>T;831T>G;898C>G;906G>A;909A>G;918C>T;925C>G;927C>T;928A>G;942G>A;967G>A;1105G>C;1144C>T;1277T>C;1330C>T;1365C>T;1849T>C;1853A>T;1897C>T]
ENST00000706896.1:n.[287T>A;304C>G;324C>T;354C>T;420C>A;516G>T;532C>G;533A>G;546T>A;558G>C;568G>C;631A>G;638T>G;639A>G;667G>T;689G>A;690G>C;694G>T;729C>A;765G>A;773T>C;782G>A;803A>T;831T>G;1476C>G;1484G>A;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1520G>A;1545G>A;1683G>C;1722C>T;1753T>C;1806C>T;1841C>T;2325T>C;2329A>T;2373C>T]
ENST00000706897.1:n.[287T>A;304C>G;324C>T;354C>T;420C>A;516G>T;532C>G;533A>G;546T>A;558G>C;568G>C;631A>G;638T>G;639A>G;667G>T;689G>A;690G>C;694G>T;729C>A;765G>A;773T>C;782G>A;803A>T;831T>G;898C>G;906G>A;909A>G;918C>T;925C>G;927C>T;928A>G;942G>A;967G>A;1105G>C;1144C>T;1175T>C;1228C>T;1263C>T;1747T>C;1751A>T;1795C>T]
ENST00000706898.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1047T>C;1051A>T;1095C>T]	ENSP00000516611.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000706899.1:n.[287T>A;304C>G;324C>T;354C>T;420C>A;516G>T;532C>G;533A>G;546T>A;558G>C;568G>C;631A>G;638T>G;639A>G;667G>T;689G>A;690G>C;694G>T;729C>A;765G>A;773T>C;782G>A;803A>T;831T>G;1476C>G;1484G>A;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1520G>A;1545G>A;1683G>C;1722C>T;1753T>C;1806C>T;1841C>T;1883T>C;1887A>T;1931C>T]
ENST00000706901.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000516612.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000706902.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000516613.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000706903.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000516614.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000706904.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000516615.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000706905.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000516616.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000376809.10:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T] MANE Select	ENSP00000366005.5:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000638375.1:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;895+106T>C;895+159C>T;895+194C>T;912T>C;916A>T;960C>T]	ENSP00000492789.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000376802.2:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;895+106T>C;895+159C>T;895+194C>T;896-376T>C;896-372A>T;896-186C>T]	ENSP00000365998.2:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000376806.9:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1047T>C;1051A>T;1095C>T]	ENSP00000366002.5:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000376809.9:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000366005.5:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000396634.5:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	ENSP00000379873.1:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gl...
ENST00000461903.1:n.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;596A>G;603T>G;604A>G;632G>T;654G>A;655G>C;659G>T;694C>A;730G>A;738T>C;747G>A;768A>T;796T>G;863C>G;871G>A;874A>G;883C>T;890C>G;892C>T;893A>G;907G>A;932G>A;1070G>C;1109C>T;1140T>C;1193C>T;1228C>T;1288T>C;1292A>T;1336C>T]
ENST00000479320.5:n.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;596A>G;603T>G;604A>G;632G>T;654G>A;655G>C;659G>T;694C>A;730G>A;738T>C;747G>A;768A>T;796T>G;863C>G;871G>A;874A>G;883C>T;890C>G;892C>T;893A>G;907G>A;932G>A;1070G>C;1109C>T;1140T>C;1193C>T;1228C>T;1270T>C;1274A>T;1318C>T]
ENST00000495183.5:n.[13T>A;30C>G;50C>T;80C>T;146C>A;242G>T;258C>G;259A>G;272T>A;284G>C;294G>C;598A>G;605T>G;606A>G;634G>T;656G>A;657G>C;661G>T;696C>A;732G>A;740T>C;749G>A;770A>T;798T>G;865C>G;873G>A;876A>G;885C>T;892C>G;894C>T;895A>G;909G>A;934G>A;1072G>C;1111C>T;1142T>C;1195C>T;1230C>T;1268T>C;1272A>T;1316C>T]
ENST00000496081.5:n.[17T>A;34C>G;54C>T;84C>T;150C>A;177+69G>T;177+85C>G;177+86A>G;177+99T>A;177+111G>C;177+121G>C;178-6A>G;179T>G;180A>G;208G>T;230G>A;231G>C;235G>T;270C>A;306G>A;314T>C;323G>A;344A>T;372T>G;439C>G;447G>A;450A>G;459C>T;466C>G;468C>T;469A>G;483G>A;508G>A;646G>C;685C>T;716T>C;769C>T;804C>T;1288T>C;1292A>T;1336C>T]
NM_002116.7:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T]	NP_002107.3:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gly80=;G...
NM_002116.8:c.[11T>A;28C>G;48C>T;78C>T;144C>A;240G>T;256C>G;257A>G;270T>A;282G>C;292G>C;355A>G;362T>G;363A>G;391G>T;413G>A;414G>C;418G>T;453C>A;489G>A;497T>C;506G>A;527A>T;555T>G;622C>G;630G>A;633A>G;642C>T;649C>G;651C>T;652A>G;666G>A;691G>A;829G>C;868C>T;899T>C;952C>T;987C>T;1029T>C;1033A>T;1077C>T] MANE Select	NP_002107.3:p.[Met4Lys;Leu10Val;Ala16=;Ser26=;Ala48=;Gly80=;G...